ClinVar Miner

Submissions for variant NM_006005.3(WFS1):c.807A>T (p.Glu269Asp)

gnomAD frequency: 0.00002  dbSNP: rs773140080
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001936103 SCV002198254 uncertain significance not provided 2024-02-24 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 269 of the WFS1 protein (p.Glu269Asp). This variant is present in population databases (rs773140080, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with WFS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1428046). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt WFS1 protein function with a negative predictive value of 95%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV005031914 SCV005664706 uncertain significance Cataract 41; Wolfram syndrome 1; Autosomal dominant nonsyndromic hearing loss 6; Type 2 diabetes mellitus; Wolfram-like syndrome 2024-05-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004738451 SCV005360157 uncertain significance WFS1-related disorder 2024-03-08 no assertion criteria provided clinical testing The WFS1 c.807A>T variant is predicted to result in the amino acid substitution p.Glu269Asp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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